Inherited eye diseases: diagnosis and clinical management
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | Undetermined |
| Veröffentlicht: |
Boca Raton [u.a.]
Taylor & Francis
2005
|
| Ausgabe: | 2. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | 798 S. Ill., graph. Darst. |
| ISBN: | 1574448390 |
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Datensatz im Suchindex
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|---|---|
| adam_text | Contents
Preface to Second Edition
Foreword to First Edition Morton F. Goldberg
Preface to First Edition
1.
Ophthalmology
Molecular Genetics
The Human Genome Project
Genes, Genotypes and Phenotypes
Ocular Gene Therapy
Genetic Counseling and Prenatal Diagnosis
Ethics of Genetic Eye Diseases
References
2.
Monogenie
Digenic Inheritance
Unusual Patterns of Inheritance
Multifactorial Inheritance
Chromosomal Inheritance
Mitochondrial Inheritance
Diagnostic Tests in Genetic Diseases
of the Eyes
References
3.
Introduction to Molecular Biology
DNA
Identification of Disease-Causing Genes
References
xi
xii Contents
4.
Introduction
Corneal
Limiting Membranes
Chromosome 5q31 Associated
Autosomal Recessive
Affecting the
Meretoja-Type Amyloidosis and the Gelsolin Gene
Central Crystalline Dystrophy
Other
Affecting the
Corneal
Limiting Membrane
Disorders Involving
Other Inherited
Corneal
Diseases or Syndromes
References
5.
Introduction
Aniridia and PAX6 Gene Mutations
Axenfeld-Rieger Syndromes
Iris Cysts
Congenital Miosis (Microcoria)
Iris Color
Various Iris Anomalies
Iritis and Other Uveitis
References
6.
Introduction
Isolated Congenital Cataracts
Congenital Cataracts Associated with
Multisystem Diseases
Infantile Cataracts with Inborn Errors of Metabolism
Juvenile,
References
7.
Introduction
Ectopia
Ectopia
Anterior Lenticonus and Alport Syndrome
Posterior Lenticonus
Microspherophakia
Contents xiii
Aphakia .... 185
References
8.
Introduction
Stargardt Disease and
BVMD and the VMD2 Gene
The Pattern Dystrophies of the Pigment Epithelium
Dominant
Sorsby
North Carolina
Other Inherited
Age Related
References
9.
Introduction
The Cone Dystrophies
The Congenital Dyschromatopsias
References
10.
Introduction
Isolated
Autosomal
Autosomal
Autosomal
X-Chromosome
Diagnostic
Retinitis
References
11.
Introduction
Leber
Usher Syndrome
Bardet-Biedl Syndrome
Retinitis
References
12.
Introduction
Vitreoretinal Nonsyndromic Degeneration
as an Isolated Disorder
Inherited Vitreoretinal Degenerations Associated with a
Generalized Disease
Degenerations)
Xjv
Other Inherited Abnormalities of the Vitreous
References
13.
Introduction
X-Linked Juvenile Retinoschisis
Familial Retinal Detachment
Norrie Disease and Allied Disorders
Inherited Retinal Vascular Abnormalities
Inherited Thrombophilia
Flecked Retina
Pigmented Paravenous Retinochoroidal Atrophy
Congenital Hypertrophy of the Retinal
Pigment Epithelium
Angioid Streaks
Chorioretinal Degenerations with Central Nervous
System Anomalies
Pigmentary Retinopathy Associated with the Enhanced
S-Cone Syndrome (ESCS)
References
14.
Introduction
Gyrate Atrophy
Choroideremia
Inherited Choroidal Atrophies
References
15.
Introduction
Congenital Stationary Night Blindness with Normal Fundi
Congenital Nyctalopia with Abnormal Fundi
References
16.
Introduction
Primary Open-Angle Glaucoma
Primary Angle Closure Glaucoma
Primary Infantile Glaucoma
Hereditary Juvenile Glaucoma
Pigmentary Glaucoma
Secondary Developmental Glaucomas
References
Contents xv
17.
Introduction
Autosomal Dominant Optic Atrophy
Recessive Optic Atrophies
Leber
References
18.
Introduction
Isolated Concomitant (Nonstrabismic) Strabismus
Associated and
References
19.
Introduction
Studies on Etiology of Myopia
Myopia in Syndromes and Other Ocular Diseases
Management and Genetic Counseling
References
20.
Introduction
Retinoblastoma and Retinoma
Malignant Melanoma
Xeroderma Pigmentosum
References
21.
Introduction
Neurofibromatosis Type
Neurofibromatosis Type
Tuberous Sclerosis
Von Hippel-Lindau
Sturge-Weber Syndrome
Neuro-Oculocutaneous Cavernous Hemangiomatosis
Other Multisystem Syndromes
References
22.
Introduction
Oculocutaneous Albinism
Ocular Albinism
Hermansky-Pudlak Syndromes (HPS)
Chediak-Higashi Syndrome (CHS)
Albinoidism and Subclinical Albinism
Waardenburg
References
xvi Contents
23. Mitochondrial DNA
Introduction
The Clinical and Genetic Types of Mitochondrial
DNA
MELAS
773
Management
... 777
References
. . 779
Index
|
| adam_txt |
Contents
Preface to Second Edition
Foreword to First Edition Morton F. Goldberg
Preface to First Edition
1.
Ophthalmology
Molecular Genetics
The Human Genome Project
Genes, Genotypes and Phenotypes
Ocular Gene Therapy
Genetic Counseling and Prenatal Diagnosis
Ethics of Genetic Eye Diseases
References
2.
Monogenie
Digenic Inheritance
Unusual Patterns of Inheritance
Multifactorial Inheritance
Chromosomal Inheritance
Mitochondrial Inheritance
Diagnostic Tests in Genetic Diseases
of the Eyes
References
3.
Introduction to Molecular Biology
DNA
Identification of Disease-Causing Genes
References
xi
xii Contents
4.
Introduction
Corneal
Limiting Membranes
Chromosome 5q31 Associated
Autosomal Recessive
Affecting the
Meretoja-Type Amyloidosis and the Gelsolin Gene
Central Crystalline Dystrophy
Other
Affecting the
Corneal
Limiting Membrane
Disorders Involving
Other Inherited
Corneal
Diseases or Syndromes
References
5.
Introduction
Aniridia and PAX6 Gene Mutations
Axenfeld-Rieger Syndromes
Iris Cysts
Congenital Miosis (Microcoria)
Iris Color
Various Iris Anomalies
Iritis and Other Uveitis
References
6.
Introduction
Isolated Congenital Cataracts
Congenital Cataracts Associated with
Multisystem Diseases
Infantile Cataracts with Inborn Errors of Metabolism
Juvenile,
References
7.
Introduction
Ectopia
Ectopia
Anterior Lenticonus and Alport Syndrome
Posterior Lenticonus
Microspherophakia
Contents xiii
Aphakia . 185
References
8.
Introduction
Stargardt Disease and
BVMD and the VMD2 Gene
The Pattern Dystrophies of the Pigment Epithelium
Dominant
Sorsby
North Carolina
Other Inherited
Age Related
References
9.
Introduction
The Cone Dystrophies
The Congenital Dyschromatopsias
References
10.
Introduction
Isolated
Autosomal
Autosomal
Autosomal
X-Chromosome
Diagnostic
Retinitis
References
11.
Introduction
Leber
Usher Syndrome
Bardet-Biedl Syndrome
Retinitis
References
12.
Introduction
Vitreoretinal Nonsyndromic Degeneration
as an Isolated Disorder
Inherited Vitreoretinal Degenerations Associated with a
Generalized Disease
Degenerations)
Xjv
Other Inherited Abnormalities of the Vitreous
References
13.
Introduction
X-Linked Juvenile Retinoschisis
Familial Retinal Detachment
Norrie Disease and Allied Disorders
Inherited Retinal Vascular Abnormalities
Inherited Thrombophilia
Flecked Retina
Pigmented Paravenous Retinochoroidal Atrophy
Congenital Hypertrophy of the Retinal
Pigment Epithelium
Angioid Streaks
Chorioretinal Degenerations with Central Nervous
System Anomalies
Pigmentary Retinopathy Associated with the Enhanced
S-Cone Syndrome (ESCS)
References
14.
Introduction
Gyrate Atrophy
Choroideremia
Inherited Choroidal Atrophies
References
15.
Introduction
Congenital Stationary Night Blindness with Normal Fundi
Congenital Nyctalopia with Abnormal Fundi
References
16.
Introduction
Primary Open-Angle Glaucoma
Primary Angle Closure Glaucoma
Primary Infantile Glaucoma
Hereditary Juvenile Glaucoma
Pigmentary Glaucoma
Secondary Developmental Glaucomas
References
Contents xv
17.
Introduction
Autosomal Dominant Optic Atrophy
Recessive Optic Atrophies
Leber
References
18.
Introduction
Isolated Concomitant (Nonstrabismic) Strabismus
Associated and
References
19.
Introduction
Studies on Etiology of Myopia
Myopia in Syndromes and Other Ocular Diseases
Management and Genetic Counseling
References
20.
Introduction
Retinoblastoma and Retinoma
Malignant Melanoma
Xeroderma Pigmentosum
References
21.
Introduction
Neurofibromatosis Type
Neurofibromatosis Type
Tuberous Sclerosis
Von Hippel-Lindau
Sturge-Weber Syndrome
Neuro-Oculocutaneous Cavernous Hemangiomatosis
Other Multisystem Syndromes
References
22.
Introduction
Oculocutaneous Albinism
Ocular Albinism
Hermansky-Pudlak Syndromes (HPS)
Chediak-Higashi Syndrome (CHS)
Albinoidism and Subclinical Albinism
Waardenburg
References
xvi Contents
23. Mitochondrial DNA
Introduction
The Clinical and Genetic Types of Mitochondrial
DNA
MELAS
773
Management
. 777
References
. . 779
Index |
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| spelling | Merin, Saul Verfasser aut Inherited eye diseases diagnosis and clinical management Saul Merin 2. ed. Boca Raton [u.a.] Taylor & Francis 2005 798 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Genetik (DE-588)4071711-2 gnd rswk-swf Vererbung (DE-588)4187668-4 gnd rswk-swf Augenkrankheit (DE-588)4112627-0 gnd rswk-swf Augenkrankheit (DE-588)4112627-0 s Erbkrankheit (DE-588)4015106-2 s DE-604 Vererbung (DE-588)4187668-4 s Genetik (DE-588)4071711-2 s Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014880149&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Merin, Saul Inherited eye diseases diagnosis and clinical management Erbkrankheit (DE-588)4015106-2 gnd Genetik (DE-588)4071711-2 gnd Vererbung (DE-588)4187668-4 gnd Augenkrankheit (DE-588)4112627-0 gnd |
| subject_GND | (DE-588)4015106-2 (DE-588)4071711-2 (DE-588)4187668-4 (DE-588)4112627-0 |
| title | Inherited eye diseases diagnosis and clinical management |
| title_auth | Inherited eye diseases diagnosis and clinical management |
| title_exact_search | Inherited eye diseases diagnosis and clinical management |
| title_exact_search_txtP | Inherited eye diseases diagnosis and clinical management |
| title_full | Inherited eye diseases diagnosis and clinical management Saul Merin |
| title_fullStr | Inherited eye diseases diagnosis and clinical management Saul Merin |
| title_full_unstemmed | Inherited eye diseases diagnosis and clinical management Saul Merin |
| title_short | Inherited eye diseases |
| title_sort | inherited eye diseases diagnosis and clinical management |
| title_sub | diagnosis and clinical management |
| topic | Erbkrankheit (DE-588)4015106-2 gnd Genetik (DE-588)4071711-2 gnd Vererbung (DE-588)4187668-4 gnd Augenkrankheit (DE-588)4112627-0 gnd |
| topic_facet | Erbkrankheit Genetik Vererbung Augenkrankheit |
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